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Topic Review
MSH2 Gene
mutS homolog 2
  • 920
  • 23 Dec 2020
Topic Review
Gitelman Syndrome
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
  • 920
  • 23 Dec 2020
Topic Review
Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.
  • 920
  • 25 Dec 2020
Topic Review
UGT1A1 Gene
UDP glucuronosyltransferase family 1 member A1.
  • 919
  • 23 Dec 2020
Topic Review
Corticosteroid-Binding Globulin Deficiency
Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion.
  • 919
  • 24 Dec 2020
Topic Review
Costeff Syndrome
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
  • 919
  • 24 Dec 2020
Topic Review
CASR Gene
calcium sensing receptor
  • 919
  • 24 Dec 2020
Topic Review
Scalp-Ear-Nipple Syndrome
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.
  • 919
  • 24 Dec 2020
Topic Review
PAX8 Gene
paired box 8
  • 919
  • 25 Dec 2020
Topic Review
TPI1 Gene
Triosephosphate isomerase 1: The TPI1 gene provides instructions for making an enzyme called triosephosphate isomerase 1.
  • 919
  • 25 Dec 2020
Topic Review
Hydrodynamics-Based Transplacental Delivery of CRISPR/Cas9
We previously demonstrated that transplacental gene delivery (TPGD) method combined with CRISPR/Cas9 system can manipulate fetal genome in situ. Recently, we examined whether the endogenous gene (myosin heavy-chain α, MHCa) can be genome-edited by TPGD in the absence of a gene delivery reagent with potential fetal toxicity. For this, we employed a hydrodynamics-based gene delivery (HGD) system with the aim of ensuring biosafety. We also investigated which embryonic stages are suitable for the induction of genome editing in fetuses. As the results, it was indicated that the HGD-based TPGD of a genome editing vector enables to manipulate the fetal genomes.
  • 918
  • 29 Oct 2020
Topic Review
Capillary Malformation-Arteriovenous Malformation Syndrome
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 918
  • 24 Dec 2020
Topic Review
FHL1 Gene
Four and a half LIM domains 1
  • 918
  • 25 Dec 2020
Topic Review
Genomics of Parasitic Plants
Parasitic plants extract nutrients from the other plants to finish their life cycle and reproduce. The control of parasitic weeds is notoriously difficult due to their tight physical association and their close biological relationship to their hosts. Parasitic plants differ in their susceptible host ranges, and the host species differ in their susceptibility to parasitic plants. Data show that adaptations of parasitic plants to various hosts are largely genetically determined. However, multiple cases of rapid adaptation in genetically homogenous parasitic weed populations to new hosts strongly suggest the involvement of epigenetic mechanisms. Progress in genome-wide analyses of gene expression and epigenetic features revealed many new molecular details of the parasitic plants’ interactions with their host plants.
  • 918
  • 13 Feb 2023
Topic Review
UNC80 Deficiency
UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or early infancy. The disorder does not typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is slow and limited, but once skills are learned, they are usually retained.  
  • 917
  • 23 Dec 2020
Topic Review
Wilson Disease
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
  • 917
  • 24 Dec 2020
Topic Review
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis).
  • 917
  • 24 Dec 2020
Topic Review
FH Gene
Fumarate hydratase
  • 917
  • 25 Dec 2020
Topic Review
FTCD Gene
Formimidoyltransferase cyclodeaminase
  • 917
  • 25 Dec 2020
Topic Review
CM Epigenetics
Cutaneous melanoma (CM) is an aggressive neoplasm that evolves from the malignant transformation of neural crest stem cell-derived melanocytes. The etiology of melanoma is multifactorial, and the most prominent factors include genetic predisposition, light skin color, multiple naevi, and excessive exposure to UV. Epigenetic alterations have emerged as essential contributors in the pathogenesis of various human diseases, including CM. Epigenetics is another layer of instructions apart from the genetic code that controls how genes are read and expressed, involving a change in the cell phenotype without changes in the genotype. Epigenetic regulation is an umbrella term that encompasses several mechanisms such as DNA methylation, histone post-translational modifications (PTMs), nucleosome remodeling, histone variants, and RNA-mediated post-transcriptional regulation. Influenced by lifestyle and environmental factors, epigenetic changes are highly dynamic and reversible and thus easy to regulate. 
  • 917
  • 08 Oct 2021
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